Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: mechanisms and therapeutic opportunities |
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| Authors: | Schlossarek Saskia Mearini Giulia Carrier Lucie |
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| Affiliation: | a Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germanyb Inserm, U974, Institut de Myologie, Paris, F-75013, Francec Université Pierre et Marie Curie-Paris6, UMR-S974, CNRS, UMR7215,Institut de Myologie, IFR14, Paris, F-75013, France |
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| Abstract: | ![]()
Cardiac myosin-binding protein C (cMyBP-C) is a component of the thick filaments of the sarcomere. Understanding the structural and functional role of cMyBP-C in the heart is clinically relevant since cMyBP-C gene mutations are a widely recognized cause of hypertrophic cardiomyopathy (HCM), which affects 0.2% of the general population. Nonsense and frameshift mutations are common in cMyBP-C and their expressions are regulated by three quality control systems, the nonsense-mediated mRNA decay, ubiquitin-proteasome system, and autophagy, which contribute to minimize the production of potential poison mutant proteins. This review discusses the structural and regulatory functions of cMyBP-C, the molecular mechanisms involved in cMyBP-C-related HCM, as well as potential causative therapies for HCM. |
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| Keywords: | CaMKII, Ca2+/calmodulin kinase II cMyBP-C, cardiac myosin-binding protein C cTnI, cardiac troponin I FN3, fibronectin 3 HCM, hypertrophic cardiomyopathy IgC2-like, immunoglobulin C2-like KI, cMyBP-C knock-in KO, cMyBP-C knock-out LMM, light meromyosin MYBPC3, human cardiac myosin-binding protein C gene Mybpc3, mouse cardiac myosin-binding protein C gene MYH7, human β-myosin heavy chain gene NMD, nonsense-mediated mRNA decay PKA, cAMP-dependent protein kinase PKCε, protein kinase C ε PKD, protein kinase D PTC, premature termination codon UPS, ubiquitin-proteasome system RSK, 90 kDa ribosomal S6 kinase |
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